Disease Term Disease ID Gene Symbol Classification References Source
Gerstmann-Straussler-Scheinker Disease C0017495 PRNP Causal Pathogenic evidence from ClinVar 1363810, 1439789, 2564168, 7699395, 7783876, 7902972, 8797472, 9786248, 10203975, 10581485, 11709001, 16831973, 19927125, 24224623 ClinVar
Gerstmann-Straussler-Scheinker syndrome 356 PRNP Causal Pathogenic evidence from ClinVar - ClinVar